Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/31893
Title: Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report
Authors: MESQUITA, Gustavo Heluani Antunes deCARVALHO, Barbara JustoMEDEIROS, Kayo Augusto de AlmeidaNII, FernandaMARTINES, Diego RamosPIPEK, Leonardo ZumerkornJARDIM, Yuri JustiWAISBERG, Daniel ReisOBARA, Marcos TakeoSITNIK, RobertaMEYER, AlbertoMANGUEIRA, Cristovao Luis Pitangueiras
Citation: BMC CANCER, v.19, article ID 324, 5p, 2019
Abstract: Background: We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and almost always related to tumors. Approximately 5% of colorectal cancers can be attributed to syndromes known to cause hereditary colorectal cancer, such as MUTYH-associated polyposis, autosomal genetic syndrome associated with this disease. Case presentation: We present the case of a 44years old male, that sought medical consultation with a complaint of abdominal discomfort, that after five days changed its characteristics. The patient was sent to the emergency department were a CT-scan revealed intestinal sub-occlusion by ileocolic invagination. Right colectomy was carried out. The anatomic-pathological examination revealed a moderately differentiated mucinous adenocarcinoma and multiples sessile polyps, which led to the suspicion of a genetic syndrome. In the genetics analysis two mutations were observed in the MUTYH gene, and MUTYH-associated polyposis was diagnosticated. Conclusion: This case demonstrates the importance of meticulous analysis of the patient examinations results to identify possible discrete alterations that can lead to improved understanding of disease.
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Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - LIM/02
LIM/02 - Laboratório de Anatomia Médico-Cirúrgica

Artigos e Materiais de Revistas Científicas - LIM/37
LIM/37 - Laboratório de Transplante e Cirurgia de Fígado

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LIM/42 - Laboratório de Hormônios e Genética Molecular

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ODS/03 - Saúde e bem-estar


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